PubMed for id: 324487

Year	Number of Results
1993	2
1998	1
2007	1
2009	2
2012	2
2013	3
2015	1
2016	1
2017	1
2019	1
2021	1
2022	1
2023	0

1

Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening.

Aoki S, Nagashima K, Shibata M, Kasahara H, Fujita Y, Hashiguchi A, Takashima H, Ikeda Y. Aoki S, et al. Intern Med. 2021 Dec 15;60(24):3975-3981. doi: 10.2169/internalmedicine.7247-21. Epub 2021 Jun 19. Intern Med. 2021. PMID: 34148957 Free PMC article.

2

A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4.

Argente-Escrig H, Sánchez-Monteagudo A, Frasquet M, Millet-Sancho E, Martínez-Rubio MD, Pitarch I, Tomás M, Espinós C, Lupo V, Sevilla T. Argente-Escrig H, et al. J Neurol Sci. 2019 Jul 15;402:156-161. doi: 10.1016/j.jns.2019.05.015. Epub 2019 May 15. J Neurol Sci. 2019. PMID: 31152969

3

A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement.

Kondo D, Shinoda K, Yamashita KI, Yamasaki R, Hashiguchi A, Takashima H, Kira JI. Kondo D, et al. Neuromuscul Disord. 2017 Oct;27(10):959-961. doi: 10.1016/j.nmd.2017.07.011. Epub 2017 Jul 26. Neuromuscul Disord. 2017. PMID: 28847448

4

Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.

Hyun YS, Lee J, Kim HJ, Hong YB, Koo H, Smith AS, Kim DH, Choi BO, Chung KW. Hyun YS, et al. Ann Hum Genet. 2015 Nov;79(6):460-9. doi: 10.1111/ahg.12134. Epub 2015 Sep 24. Ann Hum Genet. 2015. PMID: 26400421

5

The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutation.

Arai H, Hayashi M, Hayasaka K, Kanda T, Tanabe Y. Arai H, et al. Neuromuscul Disord. 2013 Aug;23(8):652-5. doi: 10.1016/j.nmd.2013.04.010. Epub 2013 Jun 14. Neuromuscul Disord. 2013. PMID: 23770104

6

A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.

Boubaker C, Hsairi-Guidara I, Castro C, Ayadi I, Boyer A, Kerkeni E, Courageot J, Abid I, Bernard R, Bonello-Palot N, Kamoun F, Cheikh HB, Lévy N, Triki C, Delague V. Boubaker C, et al. Ann Hum Genet. 2013 Jul;77(4):336-43. doi: 10.1111/ahg.12017. Epub 2013 Apr 2. Ann Hum Genet. 2013. PMID: 23550889

7

Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H.

Fabrizi GM, Taioli F, Cavallaro T, Ferrari S, Bertolasi L, Casarotto M, Rizzuto N, Deconinck T, Timmerman V, De Jonghe P. Fabrizi GM, et al. Neurology. 2009 Mar 31;72(13):1160-4. doi: 10.1212/01.wnl.0000345373.58618.b6. Neurology. 2009. PMID: 19332693

8

Charcot-Marie-Tooth Neuropathy Type 4H – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.

Delague V. Delague V. 2013 Aug 8. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2013 Aug 8. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 23926620 Free Books & Documents. Review.

9

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).

Baudot C, Esteve C, Castro C, Poitelon Y, Mas C, Hamadouche T, El-Rajab M, Lévy N, Megarbané A, Delague V. Baudot C, et al. J Peripher Nerv Syst. 2012 Jun;17(2):141-6. doi: 10.1111/j.1529-8027.2012.00405.x. J Peripher Nerv Syst. 2012. PMID: 22734899

10

A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.

Houlden H, Hammans S, Katifi H, Reilly MM. Houlden H, et al. Neurology. 2009 Feb 17;72(7):617-20. doi: 10.1212/01.wnl.0000342463.35089.cc. Neurology. 2009. PMID: 19221294 Free PMC article.

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